ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.2809G>A (p.Glu937Lys)

gnomAD frequency: 0.00001  dbSNP: rs552778606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001257135 SCV001433659 uncertain significance Autoimmune interstitial lung disease-arthritis syndrome 2019-12-03 criteria provided, single submitter clinical testing COPA c.2809G>A has not been reported in ClinVar nor the literature, to our knowledge. This variant (rs552778606) is rare (<0.1%) in a large population dataset (gnomAD: 2/251438 total alleles; 0.0008%; no homozygotes). Of three bioinformatics tools queried, two predict that the substitution would be damaging, while one predicts that it would be tolerated. The glutamic acid residue at this position is highly evolutionarily conserved across all species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.2809G>A to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001257135 SCV002260234 likely benign Autoimmune interstitial lung disease-arthritis syndrome 2022-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570617 SCV003589078 uncertain significance Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing The c.2836G>A (p.E946K) alteration is located in exon 27 (coding exon 27) of the COPA gene. This alteration results from a G to A substitution at nucleotide position 2836, causing the glutamic acid (E) at amino acid position 946 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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